Varaico: Literature-Extracted Genetic Variants

ABCC8

1,351 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_membraneaa 298–589UCSCABC transporter transmembrane region

ABC_tranaa 695–856UCSCABC transporter

ABC_membraneaa 1012–1294UCSCABC transporter transmembrane region

ABC_tranaa 1361–1509UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily C member 8

HGNC Previous Symbols

SUR; HRINS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

22 papers

NM_000352.6

p.G1478R

c.4432G>C

NM_001287174.3

p.G1479R

c.4435G>C

Surrounding Variants

22 papers

NM_000352.6

p.G1478R

c.4432G>A

NM_001287174.3

p.G1479R

c.4435G>A

4 papers

NM_000352.6

p.G1478V

c.4433G>T

2 papers

NM_000352.6

p.G1478E

c.4433G>A

2 papers

NM_001287174.3

p.G1478G

c.4434C>T

NM_000352.6

p.G1477G

c.4431C>T

2 papers

NM_000352.6

p.G1477R

c.4429G>C

1 paper

NM_000352.6

p.E1479Q

c.4435G>C

5 papers

NM_000352.6

p.E1479K

c.4435G>A

1 paper

NM_000352.6

p.N1480D

c.4438A>G

1 paper

NM_000352.6

p.N1480delFs

c.4440delA

1 paper

NM_000352.6

p.S1482R

c.4444A>C

1 paper

NM_000352.6

p.S1482R

c.4446C>G

1 paper

NM_000352.6

p.S1482R

c.4446C>A